Abstract：
:Five males are reported with severe X-linked arthrogryposis. Main findings are marked respiratory insufficiency and feeding problems, multiple contractures, deformities of chest and vertebral column, and typical facies. Most of these findings can be explained by a pronounced prenatal and postnatal muscle weakness. The sole living child has severe psychomotor retardation. Several female carriers show mild features (clubfeet, contractures, hyperkyphosis, and slight muscle weakness). One manifesting carrier is affected more severely (multiple contractures, mental retardation, and various dysmorphic features). Additional investigations including muscle biopsy revealed none of the usual signs of denervation, and pointed to the presence of a degenerative muscle disorder.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Hennekam RC,Barth PG,Van Lookeren Campagne W,De Visser M,Dingemans KPdoi
10.1007/BF02072628subject
Has Abstractpub_date
1991-07-01 00:00:00pages
656-60issue
9eissn
0340-6199issn
1432-1076journal_volume
150pub_type
杂志文章,评审abstract：:This parallel randomized controlled trial was aimed to evaluate whether parameters as physical fitness, reaction times, self-perception and enjoyment levels, as well as parental and children perspectives, were affected by active video games in inactive and technologically preoccupied children. Data were collected in a...
journal_title：European journal of pediatrics
pub_type： 杂志文章,随机对照试验
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abstract：:The aim of the study was to identify the relationship of acquired neutropenia with childhood infections and to assess its clinical course, complications, and outcome. Children admitted to two pediatric wards over a 4-year period with febrile neutropenia were prospectively investigated for underlying infections with in...
journal_title：European journal of pediatrics
pub_type： 杂志文章
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abstract：UNLABELLED:Isolated partial 3-methylcrotonyl-CoA carboxylase (MCC) deficiency has been described to be the cause for a distinct relatively mild clinical picture in a single patient. We describe another patient with isolated partial MCC deficiency who suffered from failure to thrive, muscular hypotonia and progressive r...
journal_title：European journal of pediatrics
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abstract：:We report on cytogenetic studies of a malformed fetus, whose clinical symptoms indicated the diagnosis of triploidy. This was confirmed by chromosome analysis of peripheral lymphocytes of cord blood. Using the C-banding method it was possible to identify the origin of the extra haploid set: marker chromosomes indicate...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00442640
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abstract：:The role of the type-2 T helper (Th2) cell-mediated immune response in the immunopathogenesis of atopic dermatitis (AD) is well documented. Whether polarized immunoresponse is confined to antigen-specific T cells or is distributed among all T cell subsets is still controversial. We investigated frequencies of interleu...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-006-0319-5
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abstract：UNLABELLED:Cystic fibrosis is a life shortening hereditary disease, primarily leading to progressive pulmonary infection and exocrine pancreatic dysfunction. Several gastrointestinal complications other than malabsorption can arise during the disease course and with the progressively increasing life span of patients wi...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s00431-016-2719-5
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abstract：:Small for gestational age (SGA) infants are known to develop relatively mild transient hyperbilirubinaemia, especially in comparison with premature infants. This may be interpreted as an index of accelerated maturation of particular vital functions. In the present study 12 SGA infants, 12 appropriate for gestational a...
journal_title：European journal of pediatrics
pub_type： 杂志文章
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abstract：:Iliac vessel disruption following blunt trauma is an unusual presentation, particularly in the absence of an orthopaedic injury. We present the unique case of a 14-year-old boy who sustained a blunt bicycle handlebar impalement that resulted in complete transection of the external iliac artery and laceration of the ex...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-012-1767-8
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abstract：:Haemodynamic assessment during the transitional period in preterm infants is challenging. We aimed to describe the relationships between cerebral regional tissue oxygen saturation (CrSO2), perfusion index (PI), echocardiographic, and clinical parameters in extremely preterm infants in their first 72 h of life. Twenty ...
journal_title：European journal of pediatrics
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journal_title：European journal of pediatrics
pub_type： 杂志文章
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journal_title：European journal of pediatrics
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journal_title：European journal of pediatrics
pub_type： 杂志文章
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更新日期：2008-04-01 00:00:00
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journal_title：European journal of pediatrics
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journal_title：European journal of pediatrics
pub_type： 杂志文章
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更新日期：2015-11-01 00:00:00
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journal_title：European journal of pediatrics
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journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
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更新日期：2017-01-01 00:00:00
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journal_title：European journal of pediatrics
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journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
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journal_title：European journal of pediatrics
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journal_title：European journal of pediatrics
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journal_title：European journal of pediatrics
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journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01958769
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journal_title：European journal of pediatrics
pub_type： 杂志文章
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journal_title：European journal of pediatrics
pub_type： 杂志文章
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更新日期：1997-12-01 00:00:00
abstract：:Although thyroid medications are frequently prescribed during pregnancy, paediatricians treating the respective neonates often have no information about the underlying maternal thyroid disease, and inconsistencies in postnatal diagnostics may result. We analysed a cohort of 1819 mothers admitted for delivery in 1 year...
journal_title：European journal of pediatrics
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更新日期：2018-11-01 00:00:00
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journal_title：European journal of pediatrics
pub_type： 杂志文章
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更新日期：1992-04-01 00:00:00
abstract：:Congenital adrenal hyperplasia (CAH) is an inherited metabolic disease caused by the deficiency of one of the enzymes necessary for cortisol synthesis. With carefully supervised medical treatment, CAH patients have the capacity for normal puberty and fertility. We report on a 12.4-year-old female who, because of the e...
journal_title：European journal of pediatrics
pub_type： 杂志文章
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journal_title：European journal of pediatrics
pub_type： 共识发展会议,杂志文章
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journal_title：European journal of pediatrics
pub_type： 杂志文章
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abstract：UNLABELLED:The objective of this open study was to monitor the long-term effectiveness of the Lederle-Takeda diphtheria and tetanus toxoids and acellular pertussis antigen(s) (DTaP) vaccine and the Wyeth-Lederle diphtheria and tetanus toxoids and pertussis whole cell (DTP) vaccine in children who had received four dose...
journal_title：European journal of pediatrics
pub_type： 杂志文章
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